CHRNA4

Neuronal acetylcholine receptor subunit alpha-4, also known as nAChRα4, is a protein that in humans is encoded by the CHRNA4 gene.[5][6] The protein encoded by this gene is a subunit of certain nicotinic acetylcholine receptors (nAChR). Alpha4-containing nAChRs (specifically the alpha4beta2 subtype) appear to play a crucial role in the addictive response to nicotine..

CHRNA4
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCHRNA4, BFNC, EBN, EBN1, NACHR, NACHRA4, NACRA4, cholinergic receptor nicotinic alpha 4 subunit
External IDsOMIM: 118504 MGI: 87888 HomoloGene: 592 GeneCards: CHRNA4
Gene location (Human)
Chr.Chromosome 20 (human)[1]
Band20q13.33Start63,343,223 bp[1]
End63,378,401 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

1137

11438

Ensembl

ENSG00000101204

ENSMUSG00000027577

UniProt

P43681

O70174

RefSeq (mRNA)

NM_000744
NM_001256573

NM_015730

RefSeq (protein)

NP_000735
NP_001243502

NP_056545

Location (UCSC)Chr 20: 63.34 – 63.38 MbChr 2: 181.02 – 181.04 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. After binding acetylcholine, these pentameric receptors respond by undergoing an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The protein encoded by this gene is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor.

Mutations in this gene appear to account for a small proportion of the cases of nocturnal frontal lobe epilepsy.[6] It has also been associated with a rare form of movement disorder characterised by dyskinesia during periods of exercise or activity called paroxysmal kinesogenic dyskinesia.[7]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles.[§ 1]

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|{{{bSize}}}px|alt=Nicotine Activity on Dopaminergic Neurons edit]]
Nicotine Activity on Dopaminergic Neurons edit
  1. The interactive pathway map can be edited at WikiPathways: "NicotineDopaminergic_WP1602".

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000101204 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000027577 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Anand R, Lindstrom J (Sep 1992). "Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans". Genomics. 13 (4): 962–7. doi:10.1016/0888-7543(92)90008-G. PMID 1505988.
  6. "Entrez Gene: CHRNA4 cholinergic receptor, nicotinic, alpha 4".
  7. Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA (February 2020). "The expanding spectrum of movement disorders in genetic epilepsies". Developmental Medicine and Child Neurology. 62 (2): 178–191. doi:10.1111/dmcn.14407. PMID 31784983. S2CID 208498567.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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